Differences

This shows you the differences between two versions of the page.

Link to this comparison view

Both sides previous revision Previous revision
Next revision		 Previous revision
congenital_cataract_etiology [2025/10/27 12:27] – Scott Larsoncongenital_cataract_etiology [2026/07/28 13:29] (current) – Scott Larson
Line 23: Line 23:
   * Cockayne syndrome: microcephaly   * Cockayne syndrome: microcephaly
   * Fetal rubella syndrome: microcephaly   * Fetal rubella syndrome: microcephaly
-  * Marinesco-Sjögren syndrome: microcephaly+  * [[marinesco-sjogren_syndrome|Marinesco-Sjögren syndrome]]: microcephaly
   * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447/|Mowat-Wilson syndrome]]   * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447/|Mowat-Wilson syndrome]]
   * Rubenstein-Taybi syndrome: microcephaly   * Rubenstein-Taybi syndrome: microcephaly
Line 39: Line 39:
   * Retinoblastoma   * Retinoblastoma
    
-==== Congenital Cataracts and one organ system abnormality ====+==== Congenital Cataracts and one organ system abnormality or one prominent feature ====
  
 === Short stature or limb abnormalities === === Short stature or limb abnormalities ===
Line 51: Line 51:
     * Fetal warfarin exposure     * Fetal warfarin exposure
     * Mannosidosis     * Mannosidosis
-    * Marshall-Stickler syndrome+    * Marshall syndrome  
 +    * [[stickler_syndrome|Stickler syndrome]]
     * Schwartz-Jampel syndrome     * Schwartz-Jampel syndrome
   * Limb anomalities   * Limb anomalities
Line 90: Line 91:
     * palmar hyperkeratosis     * palmar hyperkeratosis
     * extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States     * extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States
-  * Nail-Patella syndrome OMIM #161200+  * [[https://www.omim.org/entry/161200 |Nail-Patella syndrome OMIM #161200]]
     * dysplasia of the nails     * dysplasia of the nails
     * absent or hypoplastic patellae (60-90%)     * absent or hypoplastic patellae (60-90%)
Line 98: Line 99:
     * keratoconus     * keratoconus
     * glaucoma, microcornea, microphakia     * glaucoma, microcornea, microphakia
-  * Pachyonychia congenita syndrome OMIM #167200 
-    * onychogryposis 
-    * hyperkeratosis of the palms, soles, knees and elbows 
-    * tiny cutaneous horns in many areas 
-    * eukoplakia of the oral mucous membranes 
-    * Hyperhidrosis of the hands and feet 
  
 ===Cleft Lip and Palate=== ===Cleft Lip and Palate===
Line 109: Line 104:
 |Peter's Plus |B3GALTL |Yes |Yes |Short limbs, ID, heart defects | [[https://www.sciencedirect.com/science/article/abs/pii/S0003399502011206?via%3Dihub |Liesbeth J.J.M. et al. The Peters’ plus syndrome: a review, Annales de Génétique 2002; 45(2):97-103]]| |Peter's Plus |B3GALTL |Yes |Yes |Short limbs, ID, heart defects | [[https://www.sciencedirect.com/science/article/abs/pii/S0003399502011206?via%3Dihub |Liesbeth J.J.M. et al. The Peters’ plus syndrome: a review, Annales de Génétique 2002; 45(2):97-103]]|
 |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features | [[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.  JAMA Ophthalmology. 2021;139(7):691-700.]]| |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features | [[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.  JAMA Ophthalmology. 2021;139(7):691-700.]]|
-|OFCD |BCOR |Yes (palate) |Yes |Cardiac, limb anomalies |[[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.  JAMA Ophthalmology. 2021;139(7):691-700.]]|+|[[oculofacialcardiodental_syndrome| Oculofaciocardiodental syndrome (OFCD)]] |BCOR |Yes (palate) |Yes |Cardiac, limb anomalies |[[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.  JAMA Ophthalmology. 2021;139(7):691-700.]]|
 |Stickler |COL2A1, COL11A1 |Yes (palate) |Yes |Myopia, hearing loss, arthritis | [[https://pubmed.ncbi.nlm.nih.gov/121911|Hall JG, Herrod H. The Stickler Syndrome Presenting as a Dominantly Inherited Cleft Palate and Blindness. 9. Journal of Medical Genetics. 1975;12(4):397-400.]]| |Stickler |COL2A1, COL11A1 |Yes (palate) |Yes |Myopia, hearing loss, arthritis | [[https://pubmed.ncbi.nlm.nih.gov/121911|Hall JG, Herrod H. The Stickler Syndrome Presenting as a Dominantly Inherited Cleft Palate and Blindness. 9. Journal of Medical Genetics. 1975;12(4):397-400.]]|
 |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555769/ |Pierpont ME, et al. Genetic Basis for Congenital Heart Disease. Circulation. 2018;138(21):e653-e711.]]| |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555769/ |Pierpont ME, et al. Genetic Basis for Congenital Heart Disease. Circulation. 2018;138(21):e653-e711.]]|
-|Trisomy 13 |Chromosomal |Yes |Yes |Multiple anomalies |[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts.  American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]|+|[[trisomy_13|Trisomy 13]] |Chromosomal |Yes |Yes |Multiple anomalies |[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts.  American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]|